Fronto-orbital advancement in a patient with Marshall-Smith syndrome: a case report and review of the literature.

OBJECTIVE: The present report aimed to document the clinical features of a case of Marshall-Smith syndrome (MSS), an extremely rare embryonic developmental disorder with associated craniosynostosis. PATIENT AND METHOD: We presented herein a case of a 2-year-old female patient with MSS who underwent fronto-orbital advancement for multisuture craniosynostosis. RESULTS: The patient's proptosis improved after surgery, and no further surgical intervention was required for corneal exposure. A second FOA followed by revision tarsorrhaphy further improved eye closure. CONCLUSION: Surgical procedures to correct dysplastic features and limit neurological impairment are a worthwhile supportive treatment for improving the quality of life and general condition of patients with MSS.

Clinical Features of Bilambdoid and Sagittal Synostosis (BLSS): A Retrospective Multicenter Study in Japan.

ABSTRACT: Bilambdoid and sagittal synostosis (BLSS), a rare form of multisutural craniosynostosis, is sometimes known as the Mercedes-Benz syndrome due to the appearance of the fused sagittal and bilateral lambdoid sutures. Although previous studies have described some of its clinical features, the pathology of this disease is not yet fully understood. Moreover, it has been pointed out that BLSS is more common among individuals of Hispanic ethnicity, but its incidence in Asia remains unclear. In the present study, BLSS cases in Japan were analyzed to determine the characteristics of the condition in Japan. Three hospitals in Tokyo participated in the present study. Patients with BLSS who underwent cranial remodeling were included. Data on patient demographics, clinical symptoms, status of the cranial sutures, morphological subclassification, surgical procedures, developmental status, and genetic mutations were analyzed. In total, 22 patients met the enrollment criteria and were included, indicating a higher incidence of BLSS in Japan than in other nations reported in previous studies. In terms of morphological subclassification, there were 15 brachycephalic, 4 dolichocephalic, and 3 normocephalic. For the initial cranial procedure, 7 patients underwent a single-stage cranioplasty, 13 underwent a posterior distraction, and 2 underwent lateral expansion. Patients with a normocephalic cranial morphology tended to undergo surgery at an older age than patients with the other two types. Appropriate timing for surgery is important for healthy development; hence, surgeons should remember that BLSS can lead to "balanced dysmorphism" that may have led to a delay in diagnosis due to its normal-looking morphology.

Le Fort III Distraction Osteogenesis Without Bicoronal Incision.

PURPOSE: Recently, midfacial hypoplasia for syndromic craniosynostosi has been corrected by Le Fort III distraction osteogenesis. During conventional Le Fort III osteotomy, osteotomy is performed via bicoronal incision. In contrast, the authors have developed a technique for performing Le Fort III osteotomy using internal devices but without bicoronal incision. PATIENTS AND METHODS: The authors performed the Le Fort III distraction technique in 22 patients. Of these, 17 patients underwent an approach using conventional coronal incision; the others underwent an approach without coronal incision. This new approach was performed using a McCord incision, a brow incision, and gingivo-buccal sulcus incisions. We then performed osteotomy and attached the internal device. RESULTS: The age of patients ranged from 6 to 21 years (mean: 14.1 ±â€Š5.0 years) and 6 to 38 years (mean: 19.6 ±â€Š11.5 years) in the groups with or without coronal incision, respectively. Mean operative time was 410 ±â€Š196 minutes in the group with coronal incision and 357 ±â€Š121 minutes in the group without coronal incision. Mean blood loss (per unit of body weight) was 51.3 ±â€Š38.5 and 33.9 ±â€Š9.9 ml/kg) in the groups with or without coronal incision, respectively. There were no complications, except in the case of a 38-year-old patient, the oldest patient, who lost vision in the left eye after surgery. CONCLUSION: A direct facial approach for Le Fort III distraction was useful because of its reduced operative time and blood loss. However, down fracture following incomplete osteotomy or inadequate dissection of the orbit may cause blindness. Consequently, this technique requires careful attention.

Surgical Treatment of Growing Skull Fracture: Technical Aspects of Cranial Bone Reconstruction.

BACKGROUND: Growing skull fracture (GSF) is a rare, posttraumatic complication observed mainly in young infants. In GSF, the skull fracture associated with an underlying dural tear gradually expands due to herniation of the intracranial tissue into the fracture site. Many reports have discussed GSF from various points of view. However, only a few studies have focused on the details of cranial reconstruction. The present study aims to redress this omission by shedding some light on bone work in GSF surgery. METHODS: Patients registered in the institutional database who underwent surgical repair of GSF were retrospectively reviewed. RESULTS: Four patients underwent surgical repair for GSF. The site of injury was parietal in 3 patients and occipital in 1 patient . Age at the time of injury ranged from 3 months to 1 year 5 months (mean: 7 months). The duration from injury to surgery ranged from 5 to 7 months (mean: 5 months). In all patients, dural reconstruction was performed with autologous periosteum and cranial reconstruction was performed with an autologous calvarial bone graft. Regardless of the age distribution, split bone grafting was possible for all patients. CONCLUSION: To diagnose GSF promptly and thereby reduce the risk of neurologic sequelae, careful observation of the course, and education of the patients' parents are desirable. Although most children with GSF are under 3 years old, the age before the formation of the diploic layer, split bone grafts should be considered for the treatment of GSF to reduce the risk of residual cranial bone defects.

An Algorithmic Approach Using Ultrasonography in the Diagnosis of Pediatric Nasal Bone Fracture.

BACKGROUND: Ultrasonography (US) was recently reported as a reliable modality for diagnosing nasal bone fractures. However, whether US is reliable as a screening tool in the pediatric emergency department (ED) remains unknown. This prospective cohort study had a 2-fold aim: to assess the utility of US in the diagnosis of pediatric nasal bone fracture, and to evaluate the validity of our protocol for managing pediatric nasal bone fractures (Fuchu-Kids algorithm). PATIENTS AND METHODS: Among the patients who presented at the ED with facial trauma, those with a suspected nasal bone fracture were enrolled in the study. Patients were treated according to Fuchu-Kids algorithm, and the validity of the protocol using US imaging was evaluated. RESULTS: Among 81 patients who were enrolled during the 1-year study period, 63 patients were able to complete the process described in our protocol for further examination. The diagnostic power of the Fuchu-Kids algorithm had a sensitivity of 91.7%, a specificity of 92.3%, a positive predictive value (PPV) of 88%, and a negative predictive value (NPV) of 94.7%. However, when the performance of US was assessed as a single examination, its sensitivity, specificity, PPV, and NPV were 75%, 92.3%, 85.7%, and 85.7%, respectively. CONCLUSION: Using our algorithm, the majority of patients with nasal bone fracture were successfully diagnosed and screened out successfully. Repeated US imaging is effective when clinical symptoms persist even if the first US imaging was negative for nasal bone fracture. However, a detailed medical interview and clinical examination are mandatory, regardless of the use of US.

Colored pencil-core granuloma on the forehead.

We often encounter injuries caused by pencils or colored pencils in toddlers and young children, but subsequent segmental tumor formation is rare. Here we report the case of a 4-year-old boy who had been stabbed under his left eyebrow with a red pencil. Colored pencil-core granuloma, a foreign body granuloma arising from an injury with a colored pencil, was diagnosed on the basis of intraoperative and histopathologic findings. Because of the severe tissue damage that the colorant causes, this type of tumor grows rapidly within a few days and may be accompanied by resorption of the skull if it occurs on the head or face.

Twenty-five-years follow-up results of our total cranial reshaping "bamboo-ware method".

PURPOSE: For patients with craniosynostosis, there is no single procedure available for reconstructing a normal cranial shape, regardless of the type of deformity. To achieve ideal dynamic total skull remodeling for any type of craniosynostosis, we developed the bamboo-ware method. METHODS: Using two or three coronal bars as landmarks, the anterior-posterior length of the skull was determined using the sagittal bandeau, thereby creating the basic framework for reconstruction. Bone was then bridged to the remaining defects in a manner resembling woven bamboo. RESULTS: We treated 30 craniosynostosis patients (20 isolated cases and 10 cases of syndromic craniosynostosis) using the bamboo-ware method. Although intracranial infection was observed in three cases during the postoperative period, no deaths or serious complications were noted. In all patients, good cranial shape and adequate cranial volume were achieved. CONCLUSIONS: The bamboo-ware method enabled outstanding results for every type of synostosis. This method could not only treat the deformity, but also resulted in good cranial form with a single operation.

Le Fort IV + I distraction osteogenesis using an internal device for syndromic craniosynostosis.

Monobloc and Le Fort III distractions can improve midfacial hypoplasia, a characteristic feature of syndromic craniosynostosis. The purpose of treating midfacial hypoplasia is to improve exophthalmos and dental occlusion. Typically, in Le Fort III or monobloc distractions, the midface is mobilized en bloc, and the extent and direction of the mobilization is determined according to the preferred intermaxillary occlusion. However, to obtain the preferred functional and esthetic results while correcting midface hypoplasia, the most sensible approach is the use of different degrees of mobilization and vectors for the upper and lower halves of the midface. This report describes the case of an adolescent with Crouzon syndrome showing frontal recession exophthalmos and an anterior crossbite. His condition was treated with monobloc minus Le Fort I and Le Fort I distraction using only internal devices, which the authors have designated Le Fort IV plus I distraction.

Nasal tip surgery for cleft nose in Asians.

"Collapsed nasal tip," one of the most characteristic features of cleft lip nose, resembles the effect of pushing the nose tip with a finger and is especially noticeable among Asians. The authors examined a rhinoplasty technique for improving collapsed nasal tip. Using an intercartilaginous incision, the distal nasal framework, including the alar cartilages, and the caudal septum were widely exposed. A septal extension graft was fixed to the caudal septum, and the alar cartilages were precisely sutured to the extension graft using markings transferred to the extension graft. This procedure was applied to 15 Asian rhinoplasties, with all patients having substantial improvement in the shape of their nasal tip. Comparing those with and without a history of rhinoplasty, effecting a projection of the nasal tip was more difficult in patients with a history of previous rhinoplasties. The advantages of this technique include inconspicuous scarring and versatility in the modification of the nasal tip. Rhinoplasty during the growth period should be planned with consideration of future augmentation rhinoplasties.

Outcome analysis of morcellation craniotomy with distraction osteogenesis for scaphocephaly.

BACKGROUND: Techniques for sagittal synostosis correction continue to evolve, thus resulting in improved outcomes and minimized morbidity. Spring-assisted cranioplasty and strip craniotomy with postoperative helmet usage are simple minimally invasive surgeries. However, these procedures are only useful in younger patients (generally up to 9 months of age); older children usually undergo total cranial remodeling, which is more stressful. We have developed a procedure combining morcellation craniotomy with distraction osteogenesis (MoD), which we have been performing since 2000. Here, we describe and evaluate this method of treatment. METHODS: Seven patients who underwent MoD for isolated sagittal synostosis were followed for 10 years postoperatively. The control group consisted of 7 patients who had undergone total cranial remodeling in the period immediately preceding the MoD operations. Cephalography, clinical examinations, medical record data and medical photographs were used to evaluate and compare the 2 groups. RESULTS: In comparison with total cranial remodeling, the MoD procedure resulted in a significantly shorter mean operation time and a significantly lower mean blood transfusion volume. The postoperative cephalic index was not significantly different between the MoD (75.8 ± 0.9) and the control groups (75.6 ± 1.4), and satisfactory cranial shape volumes were achieved without serious complications. CONCLUSION: The MoD procedure is a safe, effective and reliable technique for dynamic total skull remodeling with minimal morbidity. It can be used to improve upon previous surgical concepts for treating scaphocephaly, particularly in older patients.

Vertical Umbilical Incision Achieves Better Cosmesis Than Periumbilical Incision in Neonates and Infants.

PURPOSE:  The transumbilical approach is widely used for minimally invasive surgery in children. We compared herein the postoperative cosmesis between two types of transumbilical approach: a vertical incision versus periumbilical incision. METHODS:  Patients with a transumbilical laparotomy before age one year were prospectively enrolled between January 2018 and December 2020. A vertical incision or periumbilical incision was chosen at the surgeon's discretion. After excluding patients receiving a relaparotomy via another site, a questionnaire about the appearance of the umbilicus was completed by the patients' guardians at postoperative month 6 to assess satisfaction and determine the visual analog scale score. A photograph of the umbilicus was taken while the questionnaire was being administered for later assessment by surgeons blinded to the scar and umbilical shape. RESULTS:  Forty patients were enrolled; 24 patients received a vertical incision while 16 received a periumbilical incision. The incision length was significantly shorter in the vertical incision group (median: 2.0; range: 1.5-3.0 cm vs. median: 2.75; range: 1.5-3.6 cm) (p = 0.001). The patients' guardians reported significantly higher satisfaction (p = 0.002) and higher scores on the visual analog scale (p = 0.046) in the vertical incision group (n = 22) than in the periumbilical incision group (n = 15). The surgeons' evaluation was associated with significantly more patients with a vertical incision than with a periumbilical incision achieving a cosmetically preferable outcome, including an invisible or fine scar and a normal umbilical shape. CONCLUSION:  A vertical umbilical incision can provide better postoperative cosmesis than a periumbilical incision.

Involvement of the sphenosquamosal suture for unilateral coronal synostosis.

The etiology of the clinical entity commonly known as unilateral coronal synostosis is often described as the unilateral fusion of the coronal ring. However, recent theories have poorly explained the basis of the deformities associated with unilateral coronal synostosis. We retrospectively analyzed computed tomographic data sets from 18 patients who presented with unilateral coronal synostosis and arrived at our hospital between 1985 and 2010. Using three-dimensional reconstructions of the computed tomographic images, analyses of the cranial base and measurements of each cranial bone were performed. As a result, the ipsilateral and contralateral basion-clinoid-pterion angles did not differ significantly (P = 0.49) and were almost identical in each case. However, the ipsilateral basion-partis-petrosae angle was wider than the corresponding contralateral angle (P < 0.001). In addition, the ipsilateral nasion-clinoid-pterion angle and the sphenoid, zygomatic, and temporal bones on the ipsilateral side were significantly shorter than those on the contralateral side (P < 0.001). Based on a shortening ratio, the sphenoid bone was smaller (42.0% ± 10.9%) than the temporal (68.9% ± 7.58%) and zygomatic bones (71.1% ± 8.38%). This difference was significant (P < 0.001). In conclusion, restricted growth potential of the central portion of the ipsilateral sphenoid bone was identified. We propose that the coronal ring, which includes the frontoparietal and frontosphenoidal sutures, and the sphenosquamosal suture are involved in unilateral coronal synostosis. Using our findings and the theory of Delashaw et al, the deformity observed in unilateral coronal synostosis can be explained more adequately and/or completely.

Relationship between cleft palate width and otitis media.

Objectives: To investigate the relationship between cleft width and otitis media (OM) and to determine whether a wide cleft palate (CP) is a risk factor of the incidence, type, amount of middle ear effusion, and prolonged morbidity in OM. Study Design: Retrospective cohort study. Methods: Children with CP who underwent palatoplasty between 2014 and 2018 were analyzed. Cleft width was measured at palatoplasty. The incidence of otitis media with effusion (OME) and acute otitis media (AOM), the type and amount of middle ear effusion, and OME duration and age at resolution were assessed in relation to cleft width. Results: One hundred eighteen children were included. The CP types were Veau I in 16, II in 35, III in 48, and IV in 19 patients. The incidence of OME and AOM before palatoplasty was 83.1% and 49.2%, respectively. Cleft width did not differ significantly between patients with or without OME but was significantly greater in those with, than in those without, AOM (p < .001), in those with mucoid, than in those with serous, effusion (p = .012), and in those with complete, than in those with partial, effusion (p = .01). Regardless of cleft width or type, OME persisted for a median duration of 50 months. Conclusions: Cleft width was significantly associated with the incidence of AOM and the type and amount of middle ear effusion before palatoplasty. However, it was not significantly related to the incidence, age at resolution, or duration of OME. Regardless of cleft width or type, OM in children with CP requires long-term follow-up. Level of Evidence: 2b.

Symptomatic enophthalmos due to sphenoid wing dysplasia appearing over 12 years in a patient with neurofibromatosis type 1: a case report and literature review.

Sphenoid wing dysplasia (SWD) is a common orbital complication of neurofibromatosis type 1 (NF1). However, enophthalmos associated with SWD is extremely rare, and details of its natural history are unclear. We present the case of a 14-year-old boy with an early childhood diagnosis of NF1 presenting with left blepharophimosis and enophthalmos for several months. Imaging demonstrated enlargement of the left lateral SWD, progression of the posteromedial deviation of the orbital contents, and sphenoid/ethmoid sinus deformation due to left temporal lobe compression over 12 years. Two characteristic changes were revealed on imaging: enlargement of the middle cranial fossa and deformation of the sphenoid/ethmoid sinuses. The orbital contents were compressed by the intracranial pressure of the temporal lobe and were displaced posteromedially into the space created by the deformed sphenoid/ethmoid sinuses. Because orbital symptoms can gradually become apparent over years with the progression of SWD and skeletal growth, long-term follow-up of orbital symptoms is recommended in patients with NF1.

A pitfall of reconstruction for severe enophthalmos: role of the posterior wall of the maxillary sinus-2.

This report describes a pitfall of reconstruction for severe enophthalmos after time has passed following traumatic injury. In severe cases, hypoglobus may be refractory to reconstructive surgery. The posterior wall of the maxillary sinus is sometimes implicated in severe enophthalmos. Thus, we considered that reconstruction of this posterior wall is critical for improvement in hypoglobus. In addition, a satisfactory contour and improvement in hypoglobus were maintained postoperatively.

A pitfall of decompression for severe exophthalmos: role of the posterior wall of the maxillary sinus-1.

This report addresses a pitfall of decompression for severe exophthalmos. In mild cases, removal of the orbital floor is an effective treatment, but in severe cases, the results of this approach are sometimes unsatisfactory, and only decompression is necessary. In these cases, orbital decompression in 3 areas including the medial wall, the lateral wall, and the orbital floor is usually performed. A 5.0-mm mean reduction in exophthalmos is observed, but more reduction is difficult to achieve.We considered the possibility that removal of the posterior wall of the maxillary sinus is critically important to achieving greater recovery. It is proposed that this technique is effective in creating about 10 mm of improvement for severe exophthalmos.

Dynamic total skull remodeling by a combination of morcellation craniotomy with distraction osteogenesis: the MoD procedure.

There are no procedures available to reconstruct the normal cranial shape irrespective of the type of cranial deformity with minimal patient stress and morbidity. To achieve dynamic total skull remodeling, we considered a new remodeling concept and developed a new procedure by combining morcellation craniotomy and distraction osteogenesis, termed the MoD procedure, and designed a distraction device, namely the angle variable distraction (AVD) system. Between 2000 and 2009, we treated 41 patients with craniosynostosis (28 and 13 cases of isolated and syndromic craniosynostosis, respectively) by using the MoD procedure with the AVD system. Compared with the conventional methods, the mean operative time was significantly shorter, and the mean transfusion volume was significantly less for the MoD procedure. In all the patients, good cranial shape and adequate cranial volume were achieved without serious complications. In conclusion, the MoD procedure with the AVD system is safe, effective, and reliable for dynamic total skull remodeling with minimal morbidity. It could be used to improve the previous surgical concepts for treating craniosynostosis.

Temperature course after transcranial surgery for Apert syndrome: a possible indicator for postoperative complication.

BACKGROUND: Pyrexia after surgical procedure is a commonly observed phenomenon. However, it is not easy to distinguish pyrexia related to a postoperative complication from the normal temperature increase after surgery. The aims of this study were to establish a normal template for postoperative temperature course after transcranial surgery in patients with Apert syndrome and to investigate the correlation between the pattern of temperature increase and etiological factors. METHODS: Seventy-seven sequential case notes of patients with Apert syndrome were retrospectively reviewed to collect postoperative temperature courses. The mean change of temperature was plotted on a graph with trend line to compare the feature of the course in each possible factor. A separate group of those who underwent fronto-orbital advancement was independently evaluated. RESULTS: The temperature course had a bimodal distribution during the first 48 hours. However, those who underwent longer surgery, fronto-facial advancement, or those accompanied by complication seemed to have the more obvious third temperature peak around 50 hours postoperatively. This finding was also true in the independent fronto-orbital advancement group. Temperature courses without postoperative complication seemed to have bimodal distribution of temperature course; on the other hand, those with postoperative complication seemed to have the obvious third temperature peak around postoperative 50 hours. CONCLUSIONS: Together with our previous study, it was concluded that pyrexia after transcranial surgery had a bimodal distribution as a normal course within the first 48 hours postoperatively. Moreover, it was suggested that the third temperature peak around 50 hours postoperatively could be an indicator for a postoperative complication.

Basal encephalocele: surgical strategy and functional outcomes in the Tokyo experience.

OBJECTIVE: The basal encephalocele (BEC) is the rarest form of encephalocele, with an incidence of about 1/35,000 live births. The incidence of its subtype, sphenoidal BEC, is even lower at about 1/700,000 live births. The aim of this study was to propose the optimal surgical approach to repairing BEC, with special attention to the reconstruction of the skull base bone defect. METHODS: Fourteen consecutive pediatric patients with BEC who underwent surgical repair between March 2004 and March 2020 (10 boys and 4 girls, age 25 days to 7 years, median age 4 months) were enrolled. The follow-up period of the surviving patients ranged from 53 to192 months (mean 119.8 months). The patient demographics, BEC subtypes, preoperative clinical condition, radiographic findings, surgical procedures, and postoperative course were retrospectively analyzed. RESULTS: There were 4, 8, and 2 cases of sphenoidal BEC, sphenoethmoidal BEC, and ethmoidal BEC, respectively. The size of the bone defect was small in 3 patients, medium in 7, and large in 4 patients. All the patients with sphenoethmoidal and ethmoidal BEC showed associated congenital anomalies other than cleft palate. In total, 25 operations were performed. Two patients underwent multiple operations, whereas the remaining 9 patients received only 1 operation. The transoral transpalatal approach was the initial procedure used in all 14 patients. The transfrontobasal approach was applied as an additional procedure in 2 patients and as part of a 1-stage combined operation in 2 patients. Autograft bone alone was used for skull base reconstruction in 17 early operations. A titanium mesh/plate was used in the remaining 8 operations without any perioperative complications. All BECs were successfully repaired. Three patients died during the clinical course due to causes unrelated to their surgery. All but one of the surviving patients started growth hormone replacement therapy before school age. CONCLUSIONS: Based on the authors' limited experience, the key to successful BEC repair involves circumferential dissection of the BEC and a firm reconstruction of the skull base bone defect with a titanium plate/mesh. The transoral transpalatal approach is a promising, reliable procedure that may be used in the initial operation. When a cleft palate is absent, transnasal endoscopic repair is recommended. The transfrontobasal approach should be reserved for cases with a huge BEC and other anomalies. Long-term prognosis is apparently favorable in survivors.

Pyrexia after transcranial surgery for Pfeiffer syndrome.

BACKGROUND: Previously, we have reported the pattern of temperature increase after transcranial surgery for nonsyndromic craniosynostosis. It was found that pyrexia had a bimodal distribution during the first 48 hours after surgery. AIM: The aims of this study were to evaluate pyrexia after transcranial surgery for syndromic craniosynostosis (Pfeiffer syndrome), to investigate whether the same pattern occurred, and to evaluate the correlation between pyrexia and possible factors, that is, sex, age, procedure, length of surgery, and incidence of postoperative cerebrospinal fluid (CSF) leakage. METHOD: Twenty-one sequential case notes of Pfeiffer syndrome were retrospectively reviewed to collect 38 postoperative temperature courses. The mean change of temperature was plotted on a graph with a trend line to find the feature of the course. RESULTS: Pyrexia after transcranial surgery for Pfeiffer syndrome had a bimodal distribution during the first 48 hours, similar to the pyrexia after transcranial surgery for nonsyndromic craniosynostosis. This pyrexia was higher and more prolonged in those undergoing a longer surgical procedure and frontofacial advancement and procedures accompanied with postoperative CSF leakage. Moreover, the temperature course was more complex in procedures accompanied with postoperative CSF leakage. CONCLUSIONS: It was concluded that in Pfeiffer syndrome, which has more complicated pathologic status than nonsyndromic craniosynostosis, also had bimodal postoperative temperature course. Although the etiology of the bimodal pyrexia remains unclear, it seems that it is part of the normal postoperative course in these cases. However, prolonged raised temperature within the first 48 postoperative hours may suggest a complication.